Disease-gene associations mined from literature

Literature associating JAGN1 and severe congenital neutropenia 5

JAGN1 [ENSP00000306106]

Jagunal homolog 1 (Drosophila); Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils; Belongs to the jagunal family.

Synonyms:  JAGN1,  JAGN1p,  hJAGN1,  Q8N5M9,  FLJ14602 ...

Linkouts:  STRING  Pharos  UniProt